OTUD6B

Last updated
OTUD6B
Identifiers
Aliases OTUD6B , DUBA-5, DUBA5, CGI-77, OTU domain containing 6B, IDDFSDA, OTU deubiquitinase 6B
External IDs OMIM: 612021 MGI: 1919451 HomoloGene: 6064 GeneCards: OTUD6B
Orthologs
SpeciesHumanMouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001286745
NM_016023

NM_152812

RefSeq (protein)

NP_001273674
NP_057107

NP_690025

Location (UCSC) Chr 8: 91.07 – 91.09 Mb Chr 4: 14.81 – 14.83 Mb
PubMed search [3] [4]
Wikidata
View/Edit Human View/Edit Mouse

OTU domain containing 6B is a protein that in humans is encoded by the OTUD6B gene. [5]

OTUD6B is a functional deubiquitinating enzyme, a class of protease that specifically cleaves ubiquitin linkages, negating the action of ubiquitin ligases. OTUD6B, also known as DUBA5, belongs to a DUB subfamily characterized by an ovarian tumor domain (OTU). [5] OTUD6B function may be connected to growth and proliferation. [6] [7] This hypothesis is supported by a recent study indicating that OTUD6B knock out mice, obtained through exon 4 deletion, are subviable and smaller in size. [8] In humans, OTUD6B mutations have been connected to an intellectual disability syndrome associated with dysmorphic features. [8]

Previous studies on model organisms (see below) cannot be verified by this editor.

Model organisms have been used in the study of OTUD6B function. A conditional knockout mouse line, called Otud6btm1a(EUCOMM)Wtsi [13] [14] was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. [15] [16] [17]

Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. [11] [18] Twenty five tests were carried out on homozygous mutant adult mice, however no significant abnormalities were observed. [11]

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References

  1. 1 2 3 GRCh38: Ensembl release 89: ENSG00000155100 - Ensembl, May 2017
  2. 1 2 3 GRCm38: Ensembl release 89: ENSMUSG00000040550 - Ensembl, May 2017
  3. "Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  4. "Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
  5. 1 2 "Entrez Gene: OTU domain containing 6B" . Retrieved 2011-08-30.
  6. Sobol A, Askonas C, Alani S, Weber MJ, Ananthanarayanan V, Osipo C, Bocchetta M (November 2016). "Deubiquitinase OTUD6B Isoforms are Important Regulators of Growth and Proliferation". Molecular Cancer Research. 15 (2): 117–127. doi:10.1158/1541-7786.MCR-16-0281-T. PMC   5290186 . PMID   27864334.
  7. Xu Z, Zheng Y, Zhu Y, Kong X, Hu L (January 2011). "Evidence for OTUD-6B participation in B lymphocytes cell cycle after cytokine stimulation". PLOS ONE. 6 (1): e14514. Bibcode:2011PLoSO...614514X. doi: 10.1371/journal.pone.0014514 . PMC   3022568 . PMID   21267069.
  8. 1 2 Santiago-Sim, Teresa; Burrage, Lindsay C.; Ebstein, Frédéric; Tokita, Mari J.; Miller, Marcus; Bi, Weimin; Braxton, Alicia A.; Rosenfeld, Jill A.; Shahrour, Maher (2017-04-06). "Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features". American Journal of Human Genetics. 100 (4): 676–688. doi:10.1016/j.ajhg.2017.03.001. ISSN   1537-6605. PMC   5384096 . PMID   28343629.
  9. "Salmonella infection data for Otud6b". Wellcome Trust Sanger Institute.
  10. "Citrobacter infection data for Otud6b". Wellcome Trust Sanger Institute.
  11. 1 2 3 Gerdin AK (2010). "The Sanger Mouse Genetics Programme: High throughput characterisation of knockout mice". Acta Ophthalmologica. 88 (S248). doi:10.1111/j.1755-3768.2010.4142.x. S2CID   85911512.
  12. Mouse Resources Portal, Wellcome Trust Sanger Institute.
  13. "International Knockout Mouse Consortium". Archived from the original on 2012-03-20. Retrieved 2012-01-05.
  14. "Mouse Genome Informatics".
  15. Skarnes WC, Rosen B, West AP, Koutsourakis M, Bushell W, Iyer V, Mujica AO, Thomas M, Harrow J, Cox T, Jackson D, Severin J, Biggs P, Fu J, Nefedov M, de Jong PJ, Stewart AF, Bradley A (Jun 2011). "A conditional knockout resource for the genome-wide study of mouse gene function". Nature. 474 (7351): 337–42. doi:10.1038/nature10163. PMC   3572410 . PMID   21677750.
  16. Dolgin E (Jun 2011). "Mouse library set to be knockout". Nature. 474 (7351): 262–3. doi:10.1038/474262a. PMID   21677718.
  17. Collins FS, Rossant J, Wurst W (Jan 2007). "A mouse for all reasons". Cell. 128 (1): 9–13. doi: 10.1016/j.cell.2006.12.018 . PMID   17218247. S2CID   18872015.
  18. van der Weyden L, White JK, Adams DJ, Logan DW (2011). "The mouse genetics toolkit: revealing function and mechanism". Genome Biology. 12 (6): 224. doi: 10.1186/gb-2011-12-6-224 . PMC   3218837 . PMID   21722353.

Further reading